Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease [0.03%]
夫妻双方均患有阿尔茨海默病时其子女的患病风险
Suman Jayadev,Ellen J Steinbart,Yueh-Yun Chi et al.
Suman Jayadev et al.
Background: There is limited information regarding children's risk of Alzheimer disease (AD) if both parents are affected. Objective: T...
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases [0.03%]
线粒体DNA ND5基因G13513A突变作为MELAS或莱igh病常见原因的证据：12例报告
Sara Shanske,Jorida Coku,Jiesheng Lu et al.
Sara Shanske et al.
Background: The number of molecular causes of MELAS (a syndrome consisting of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) and Leigh syndrome (LS) has steadily increased. Among these, mutatio...
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification [0.03%]
皮质脑畸形：临床、神经放射学和现代基因分类的影响
Marie Claire Yvette de Wit,Maarten H Lequin,Ireneaus F M de Coo et al.
Marie Claire Yvette de Wit et al.
Background: Malformations of cortical development (MCDs) are a major source of handicap. Much progress in understanding the genetic causes has been made recently. The number of affected children in whom a molecularly conf...
Interferon gamma allelic variants: sex-biased multiple sclerosis susceptibility and gene expression [0.03%]
干扰素γ等位基因变异体与多发性硬化遗传易感性和基因表达的性别差异关系研究
Orhun H Kantarci,David D Hebrink,Janet Schaefer-Klein et al.
Orhun H Kantarci et al.
Background: Interferon (IFN) gamma (IFNG) allelic variants are associated with susceptibility to multiple sclerosis (MS) in men but not in women. Objectiv...
Ilse A Hoppenbrouwers,Fan Liu,Yurii S Aulchenko et al.
Ilse A Hoppenbrouwers et al.
Objective: To investigate the parental relationship of patients with multiple sclerosis (MS) from an extended pedigree with extensive genealogical information up to the middle of the 18th century. ...
Stephen C Waring,Roger N Rosenberg
Stephen C Waring
The genetics of Alzheimer disease (AD) to date support an age-dependent dichotomous model whereby earlier age of disease onset (< 60 years) is explained by 3 fully penetrant genes (APP [NCBI Entrez gene 351], PSEN1 [NCBI Entrez gene 5663], ...
Retromer sorting: a pathogenic pathway in late-onset Alzheimer disease [0.03%]
回溯运输体分类：晚发性阿尔茨海默病的致病途径
Scott A Small
Scott A Small
During the tail end of the 20th century, a "golden period" in Alzheimer disease (AD) research, many of the pathogenic molecules of the autosomal dominant form of the disease were isolated. These molecular defects, however, do not exist in "...
The HapMap: charting a course for genetic discovery in neurological diseases [0.03%]
绘制基因图谱以发现神经性疾病的新方法
John Hardy,Andrew Singleton
John Hardy
Whole-genome association analyses have begun to yield confirmed findings for genetic risk variants for complex disease. As the first reports of its application to neurological disease are described, we review this progress, explain the prin...
Stem cells on the brain [0.03%]
干细胞与大脑
Paul S Knoepfler
Paul S Knoepfler
Roger N Rosenberg
Roger N Rosenberg